|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
MGD |
|
|
|
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, although the presence of JAK2(V617F) in ET appears to promote a PV phenotype, it might not carry treatment-relevant information.
|
16197451 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, it is very clear that some patients with classical PV lack the JAK2 V617F mutation, while some patients with other chronic myeloproliferative disorders such as idiopathic myelofibrosis (IMF) and essential thrombocytosis (ET) also express the JAK2 V617F mutation.
|
16210034 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that JAK2 V617F-positive essential thrombocythaemia and polycythaemia vera form a biological continuum, with the degree of erythrocytosis determined by physiological or genetic modifiers.
|
16325696 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
CTD_human |
A single point mutation (Val617Phe) was identified in JAK2 in 71 (97%) of 73 patients with polycythaemia vera, 29 (57%) of 51 with essential thrombocythaemia, and eight (50%) of 16 with idiopathic myelofibrosis.
|
15781101 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A point mutation in the Janus kinase 2 exchanging a valine for a phenylalanine at position 617 (JAK2 V617F) was found in 65% to 97% of polycythemia vera (PV) patients, as well as in approximately 50% of essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF) patients.
|
16210033 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
CTD_human |
A gain-of-function mutation of JAK2 in myeloproliferative disorders.
|
15858187 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In order to explore the correlation between these two biological markers and compare their diagnostic utility, mutation analysis for JAK2(V617F) and quantitative measurement of granulocyte PRV-1 expression were performed on the same study sample from 100 participants: 38 with PV, 22 with essential thrombocythaemia (ET), 10 with agnogenic myeloid metaplasia (AMM), 19 with secondary polycythaemia (SP) and 11 healthy volunteers.
|
16197445 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Three studies now report an amino acid substitution in the JAK2 kinase in most patients with polycythemia vera as well as in some cases of essential thrombocythemia and chronic idiopathic myelofibrosis.
|
15837617 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
|
15837627 |
2005 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Serial analysis of JAK2 mutation in a patient who developed essential thrombocythemia after orthotopic liver transplantation.
|
16929538 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Serial analysis of JAK2 mutation in a patient who developed essential thrombocythemia after orthotopic liver transplantation.
|
16929538 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most patients with polycythemia vera and half with idiopathic myelofibrosis and essential thrombocythemia have an acquired V617F mutation in JAK2.
|
16293597 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Moreover, allelic ratios higher than 50% JAK2-V617F, indicating the presence of granulocytes homozygous for JAK2-V617F, were found in 70% of PV at diagnosis but never in ET.
|
16728702 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Essential thrombocythemia (ET) is rare in children, and little or no information is available about clonality or JAK2 mutations.
|
16849644 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
CTD_human |
[Primary thrombocythemia: diagnosis and therapy].
|
16896569 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An acquired V617F JAK2 mutation occurs in patients with polycythemia vera (PV) or essential thrombocythemia (ET).
|
16772604 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This indicates that JAK2 V617-positive ET patients, diagnosed according to the PVSG criteria, represent a "forme fruste of PV" consistent with early PV mimicking ET (JAK2 V617F trilinear MPD).
|
16810609 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An activating JAK2 mutation (JAK2 V617F) is present in the chronic myeloproliferative disorders (MPDs), polycythemia vera (PV), idiopathic myelofibrosis (IMF), and essential thrombocytosis (ET).
|
16912229 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The JAK2(V617F) mutation is present in almost all patients with polycythemia vera (PV), large proportions of patients with essential thrombocythemia and idiopathic myelofibrosis, and less frequently in atypical myeloproliferative disorders (MPD).
|
17145859 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fli-1 mRNA expression was significantly higher in Essential thrombocythaemia (ET) with JAK2 (V617F) compared with other Ph(-) CMPD and control (P < 0.001).
|
16930139 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.
|
16885051 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
Biomarker
|
disease |
LHGDN |
JAK2 V617F mutation analysis in different myeloid lineages (granulocytes, platelets, CFU-MK, BFU-E and CFU-GM) in essential thrombocythemia patients.
|
16888614 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation.
|
16885051 |
2006 |
|
Thrombocythemia, Essential
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
JAK2V617F, a somatic gain-of-function mutation involving the JAK2 tyrosine kinase gene, occurs in nearly all patients with polycythemia vera (PV) but also in a variable proportion of patients with other myeloid disorders; mutational frequency is estimated at approximately 50% in both essential thrombocythemia (ET) and myelofibrosis (MF), up to 20% in certain subcategories of atypical myeloproliferative disorder (atypical MPD), less than 3% in de novo myelodysplastic syndrome (MDS) or acute myeloid leukemia, and 0% in chronic myeloid leukemia (CML).
|
17124067 |
2006 |